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ONTOLOGY REPORT - ANNOTATIONS


Term:Brooke-Spiegler syndrome
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Accession:DOID:0050693 term browser browse the term
Definition:An autosomal dominant disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO)
Synonyms:exact_synonym: Ancell-Spiegler cylindromas;   BRSS;   BSS;   Brooke-Fordyce trichoepitheliomas;   Cylindromas, Dermal Eccrine;   Dermal Eccrine Cylindroma;   EAC;   Epithelioma adenoides cysticum of Brooke;   FAMILIAL MULTIPLE TRICHOEPITHELIOMATA;   Familial Trichoepithelioma;   Hereditary Multiple Benign Cystic Epithelioma;   MFT1;   Multiple Familial Trichoepithelioma;   SBS;   Turban tumor syndrome;   Turban tumors;   familial cylindromatosis;   multiple familial trichoepithelioma 1
 primary_id: MESH:C536611
 alt_id: OMIM:132700;   OMIM:601606;   OMIM:605041;   RDO:0002168;   RDO:0002243
 xref: GARD:10179
For additional species annotation, visit the Alliance of Genome Resources.


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Brooke-Spiegler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyld CYLD lysine 63 deubiquitinase JBrowse link 19 19,264,984 19,323,817 RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
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  disease 14759
    disease of cellular proliferation 5566
      Hereditary Neoplastic Syndromes 647
        Brooke-Spiegler syndrome 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                Brooke-Spiegler syndrome 1
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